Pendred syndrome


Also found in: Acronyms, Wikipedia.

Pen·dred syn·drome (PDS),

(pen'drĕd), [MIM*274600]
characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; afflicted people are usually euthyroid; autosomal recessive inheritance, caused by mutation in the Pendred syndrome gene (PDS) encoding pendrin on chromosome 7q.

Pendred syndrome

An autosomal recessive MIM 274600 condition associated with developmental defects of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement; it is the most common syndromic form of deafness.

Diagnosis
The gold-standard (perchlorate discharge) test is nonspecific, and its sensitivity is unknown.

Pathogenesis
It is caused by mutation in the SLC26A4/PDS.

Pendred syndrome

Endocrinology Hereditary association of congenital deafness and goiter due to a defect in thyroid hormone production. See Goiter. Cf Hypothyroidism.

Pen·dred syn·drome

(pen'drĕd sin'drōm)
Characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; those afflicted are usually euthyroid; autosomal recessive inheritance, caused by mutation in the Pendred syndrome gene (PDS) encoding pendrin on chromosome 7q.

Pendred,

Vaughan, English surgeon, 1869-1946.
Pendred syndrome - a type of familial goiter.
Mentioned in ?
References in periodicals archive ?
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
Molecular analysis of the PDS gene in Pendred syndrome.
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.
Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene.
Genetic factors that might lead to different responses in individuals exposed to perchlorate

Medical browser ?
Full browser ?